Mutagenetix > Incidental Mutation

Incidental Mutation 'R7545:Cfap45'

584134

Institutional Source

Beutler Lab

Gene Symbol

Cfap45

Ensembl Gene

ENSMUSG00000026546

Gene Name

cilia and flagella associated protein 45

Synonyms

1700028D05Rik, Nesg1, Ccdc19

MMRRC Submission

045650-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R7545 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172348697-172373437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 172366163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 339 (M339L)

Ref Sequence

ENSEMBL: ENSMUSP00000083057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085894] [ENSMUST00000160303]

AlphaFold

Q9D9U9

Predicted Effect

probably benign
Transcript: ENSMUST00000085894
AA Change: M339L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083057
Gene: ENSMUSG00000026546
AA Change: M339L

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
Pfam:TPH	187	532	1.5e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160303
AA Change: M29L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124646
Gene: ENSMUSG00000026546
AA Change: M29L

Domain	Start	End	E-Value	Type
Pfam:Trichoplein	1	64	1.9e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	T	C	5: 107,696,040 (GRCm39)	Y159H	probably damaging	Het
A1cf	A	T	19: 31,912,190 (GRCm39)	N435I	possibly damaging	Het
Aasdh	A	T	5: 77,027,861 (GRCm39)	F849I	probably damaging	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Acnat1	A	T	4: 49,449,142 (GRCm39)	L208*	probably null	Het
Adam26b	C	T	8: 43,974,750 (GRCm39)	G84D	probably damaging	Het
Adamtsl1	A	T	4: 85,683,092 (GRCm39)	E54D	probably damaging	Het
Ang6	T	G	14: 44,239,636 (GRCm39)	I31L	probably benign	Het
Asic4	A	G	1: 75,449,060 (GRCm39)	N403S	probably damaging	Het
Bicd1	G	A	6: 149,414,990 (GRCm39)	V568M	probably benign	Het
Ccdc192	A	G	18: 57,863,895 (GRCm39)	E233G	probably damaging	Het
Cnga4	A	G	7: 105,056,286 (GRCm39)	D399G	probably damaging	Het
Csnk1g3	C	T	18: 54,028,897 (GRCm39)	R17W	probably damaging	Het
Dnah11	A	G	12: 117,894,939 (GRCm39)	F3636S	probably damaging	Het
Dscaml1	A	T	9: 45,596,681 (GRCm39)	T842S	probably benign	Het
Ets2	C	A	16: 95,516,127 (GRCm39)	Q236K	probably benign	Het
Ext2	C	A	2: 93,644,108 (GRCm39)	V58L	probably benign	Het
Fam135b	T	C	15: 71,322,359 (GRCm39)	K1269E	possibly damaging	Het
Fech	A	G	18: 64,597,185 (GRCm39)	L258P	probably damaging	Het
Gls	A	G	1: 52,230,311 (GRCm39)	S467P	probably damaging	Het
Gm19410	T	A	8: 36,269,779 (GRCm39)	D1141E	probably damaging	Het
Gm45861	T	G	8: 28,071,032 (GRCm39)	M1246R	unknown	Het
Gm6902	T	A	7: 22,973,087 (GRCm39)	I147L	probably benign	Het
Itga7	G	T	10: 128,769,775 (GRCm39)		probably benign	Het
Itpripl1	A	T	2: 126,983,581 (GRCm39)	C180*	probably null	Het
Klhl33	C	A	14: 51,130,631 (GRCm39)	V28F	probably damaging	Het
Kmo	A	T	1: 175,481,194 (GRCm39)	D304V	probably damaging	Het
Mier2	T	C	10: 79,377,028 (GRCm39)	N537S	possibly damaging	Het
Mroh9	A	G	1: 162,902,277 (GRCm39)	I112T	possibly damaging	Het
Mterf1a	T	A	5: 3,940,995 (GRCm39)	E291V	probably damaging	Het
Muc5ac	T	A	7: 141,362,405 (GRCm39)	N1905K	unknown	Het
Myt1l	G	A	12: 29,877,087 (GRCm39)	R246Q	unknown	Het
Nav2	A	G	7: 49,232,605 (GRCm39)	E1854G	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Nf1	T	A	11: 79,300,350 (GRCm39)	D287E	probably benign	Het
Nfyc	T	C	4: 120,630,966 (GRCm39)		probably null	Het
Obscn	A	T	11: 58,929,725 (GRCm39)	D5163E	probably damaging	Het
Or10d4c	C	T	9: 39,558,403 (GRCm39)	P127L	probably damaging	Het
Or8g28	T	A	9: 39,169,984 (GRCm39)		probably null	Het
Plppr1	A	T	4: 49,320,002 (GRCm39)	L209F	possibly damaging	Het
Pmm1	T	C	15: 81,835,803 (GRCm39)	D226G	probably damaging	Het
Polr1b	T	A	2: 128,959,766 (GRCm39)		probably null	Het
Ppp2r5a	A	G	1: 191,104,806 (GRCm39)	V80A	probably benign	Het
Pramel17	T	A	4: 101,695,159 (GRCm39)	I51L	probably benign	Het
Psrc1	A	G	3: 108,293,759 (GRCm39)		probably null	Het
Ralbp1	T	C	17: 66,174,593 (GRCm39)	T60A	probably benign	Het
Rasal2	A	T	1: 157,020,339 (GRCm39)	S217T	possibly damaging	Het
Rnase12	A	G	14: 51,294,395 (GRCm39)	F95L	probably damaging	Het
Rnf152	A	T	1: 105,211,957 (GRCm39)	I200K	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,134 (GRCm39)		probably benign	Het
Ryk	C	T	9: 102,765,672 (GRCm39)	T327I	probably damaging	Het
Sell	A	T	1: 163,892,903 (GRCm39)	T40S	probably benign	Het
Slc15a2	G	A	16: 36,595,964 (GRCm39)	H153Y	probably damaging	Het
Slit3	A	G	11: 35,591,139 (GRCm39)	D1317G	possibly damaging	Het
Slx4	G	A	16: 3,817,164 (GRCm39)	T19M	probably benign	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Specc1l	T	C	10: 75,080,921 (GRCm39)	S106P	probably benign	Het
Speer1a	C	A	5: 11,394,884 (GRCm39)	Q124K	possibly damaging	Het
Stc2	T	C	11: 31,317,799 (GRCm39)	N74S	probably damaging	Het
Strn3	A	T	12: 51,674,543 (GRCm39)	S498T	probably damaging	Het
Sva	C	T	6: 42,019,148 (GRCm39)	T106I	probably benign	Het
Tle3	T	A	9: 61,301,984 (GRCm39)	L131Q	possibly damaging	Het
Tmem135	T	A	7: 88,954,727 (GRCm39)	R97W	probably damaging	Het
Tmx4	A	G	2: 134,451,425 (GRCm39)	L176S	possibly damaging	Het
Tomm20l	C	A	12: 71,164,171 (GRCm39)		probably null	Het
Topors	A	T	4: 40,262,173 (GRCm39)	F370L	possibly damaging	Het
Ulk4	T	C	9: 120,970,904 (GRCm39)	T1023A	probably benign	Het
Unc13a	C	T	8: 72,094,153 (GRCm39)		probably null	Het
Urb2	T	C	8: 124,756,491 (GRCm39)	S733P	probably benign	Het
Vwf	A	G	6: 125,591,060 (GRCm39)	D750G		Het
Xylt1	G	A	7: 117,192,812 (GRCm39)	D373N	probably benign	Het

Other mutations in Cfap45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Cfap45	APN	1	172,362,912 (GRCm39)	unclassified	probably benign
IGL01936:Cfap45	APN	1	172,361,616 (GRCm39)	missense	probably damaging	1.00
IGL03235:Cfap45	APN	1	172,366,060 (GRCm39)	missense	possibly damaging	0.55
R0194:Cfap45	UTSW	1	172,368,894 (GRCm39)	missense	probably benign	0.05
R0883:Cfap45	UTSW	1	172,359,756 (GRCm39)	missense	possibly damaging	0.90
R1130:Cfap45	UTSW	1	172,373,264 (GRCm39)	missense	probably damaging	1.00
R1168:Cfap45	UTSW	1	172,373,264 (GRCm39)	missense	probably damaging	1.00
R1356:Cfap45	UTSW	1	172,355,430 (GRCm39)	missense	possibly damaging	0.53
R1522:Cfap45	UTSW	1	172,368,139 (GRCm39)	missense	probably damaging	1.00
R1921:Cfap45	UTSW	1	172,372,679 (GRCm39)	missense	probably damaging	1.00
R1922:Cfap45	UTSW	1	172,372,679 (GRCm39)	missense	probably damaging	1.00
R2203:Cfap45	UTSW	1	172,359,728 (GRCm39)	missense	probably benign	0.28
R2204:Cfap45	UTSW	1	172,359,728 (GRCm39)	missense	probably benign	0.28
R2205:Cfap45	UTSW	1	172,359,728 (GRCm39)	missense	probably benign	0.28
R3156:Cfap45	UTSW	1	172,373,291 (GRCm39)	missense	possibly damaging	0.93
R4059:Cfap45	UTSW	1	172,366,056 (GRCm39)	missense	probably benign	0.00
R4151:Cfap45	UTSW	1	172,359,788 (GRCm39)	missense	probably damaging	0.98
R4445:Cfap45	UTSW	1	172,362,794 (GRCm39)	missense	probably benign	0.07
R4548:Cfap45	UTSW	1	172,372,675 (GRCm39)	missense	probably benign	0.00
R4582:Cfap45	UTSW	1	172,357,479 (GRCm39)	missense	probably benign	0.42
R4909:Cfap45	UTSW	1	172,357,443 (GRCm39)	missense	probably benign	0.14
R5200:Cfap45	UTSW	1	172,372,696 (GRCm39)	nonsense	probably null
R5800:Cfap45	UTSW	1	172,366,167 (GRCm39)	missense	probably damaging	0.98
R6520:Cfap45	UTSW	1	172,368,151 (GRCm39)	missense	probably damaging	1.00
R6662:Cfap45	UTSW	1	172,357,417 (GRCm39)	missense	probably benign	0.01
R7378:Cfap45	UTSW	1	172,365,910 (GRCm39)	splice site	probably null
R7390:Cfap45	UTSW	1	172,368,925 (GRCm39)	missense	probably benign	0.00
R7468:Cfap45	UTSW	1	172,362,877 (GRCm39)	nonsense	probably null
R7988:Cfap45	UTSW	1	172,357,501 (GRCm39)	missense	probably damaging	1.00
R8212:Cfap45	UTSW	1	172,369,067 (GRCm39)	splice site	probably null
R8272:Cfap45	UTSW	1	172,355,406 (GRCm39)	missense	possibly damaging	0.53
R8939:Cfap45	UTSW	1	172,372,834 (GRCm39)	missense	probably damaging	1.00
R9461:Cfap45	UTSW	1	172,362,894 (GRCm39)	missense	possibly damaging	0.92
Z1176:Cfap45	UTSW	1	172,372,851 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTCAGTAGCTATATGCCTTGC -3'
(R):5'- GGGGCGGTGTCTCTAAAATC -3'

Sequencing Primer
(F):5'- AGTAGCTATATGCCTTGCCTTCTTC -3'
(R):5'- GGGCGGTGTCTCTAAAATCTATACTC -3'

Posted On

2019-10-17